BioinformaticsbioRxivPreprint
Insilico Analysis Reveal Three novel nsSNPs May effect on GM2A protein Leading to AB variant of GM2 gangliosidosis
Tebyan A. Abdelhameed, Mujahed I. Mustafa, Dina N. Abdelrahman…·Mohamed Ahmed Salih Hassan
The paper identifies four damaging SNPs in the GM2A gene, three of which are novel, and predicts their impact on protein structure and function, potentially contributing to AB variant of GM2 gangliosidosis.
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